Discover the fascinating world of genetic genealogy! Written for the non-scientist, YGG is the best source for unbiased news on the major genealogy DNA testing companies.
Written by CeCe Moore, an independent professional genetic genealogist and television consultant.

Tuesday, August 21, 2012

AncestryDNA: Confusing Relationship Predictions and Adoptees

As my readers are aware, I have been advocating for AncestryDNA to release the genetic data behind their matching predictions since the launch of their autosomal DNA test. You may also know that I am a passionate advocate for adoptees and their right to discover their heritage. This week, the two issues have collided into what I feel is a very important issue.

An increasing number of adoptees have been discovering their roots and, in some cases, their birth families through autosomal DNA testing at 23andMe and Family Tree DNA. I have been very encouraged by this and, as a result, have been suggesting that adoptees who are able to afford it, test at all three of the companies currently offering atDNA testing in order to "fish in different ponds" for close relatives. AncestryDNA has been last on this list of three companies due to the fact that their test does not include the raw genetic data for download, the specific matching segment information or the total DNA shared between matches. However, they were still on the list because I believed that if an adoptee were to get a very close match there, finding their birth family would be very clear-cut even without the genetic data. Well, I was wrong.

Initially, I was very excited to learn that an adoptee had received a parent/child prediction for one of their matches at AncestryDNA this week. What has happened since really illuminates the problem of not allowing customers access to the genetic data behind the predictions. The adoptee, a couple of adoption search angels and myself have all been researching and have come to the conclusion that there is absolutely no way this match is being accurately predicted.

Let me explain further. For the purposes of this story and to protect the identities of those involved, I will use non-gender specific names and call the adoptee "Chris" and the match "Pat". I also cannot share some of the specific details for privacy reasons but, believe me, I am very confident about what I am writing.

A parent and a child share 50% of their autosomal DNA. Since Chris and Pat cannot possibly share that relationship due to the fact that they are much too close in age, we looked at the most obvious alternate theory, which is that they are full siblings. Full siblings also share approximately 50% of their DNA on average. Since Pat's parents are both too young to have conceived Chris, then that was also determined to be impossible. This also rules out half-siblings who share approximately 25% of their DNA on average. The next most likely scenario is that Chris and Pat are aunt/uncle and niece/nephew. This doesn't seem probable based on the family structures and double first cousins is also out based on Pat's family tree. The next closest relationship genetically would be first cousins who share an average of about 12.5% of their DNA. That is getting pretty far away for a parent/child prediction AND guess what?! None of Pat's aunts and uncles were old enough to reasonably have had children when Chris was born either. Further complicating the situation is that Chris' non-ID (non-identifying information given to an adoptee about their birth families) is pretty detailed and specific, listing the birth parents' ages as in their twenties (so not exceedingly young), their family heritage and information about the maternal grandparents. None of this matches Pat's tree at all, even at more distant levels.

This has been a mind-bending, frustrating situation for all involved, especially the adoptee. Try to imagine the elation of receiving this match after being blocked in every other avenue of discovery, to then have it turn out like this: so close and yet still so far. The really unfortunate thing is that if this match was at either 23andMe or Family Tree DNA, there would be no question what the actual relationship is. This is because both of those companies give the total amount of matching DNA and allow their customers to see the actual pattern of inheritance, which in most cases, will point to the exact relationship. In the few remaining cases, 23andMe can dispel all doubt for parent/child/sibling/aunt/uncle/niece/nephew and often even first cousin matches because, in addition, they include with their results fully identical segments, haplogroups and X-DNA inheritance. The fully identical segments will only appear in full siblings and/or double first cousins, haplogroups will help narrow down on which side of the family the relationship lies and the pattern of X-DNA inheritance will usually discriminate between aunt/uncle/niece/nephew and half siblings, as my colleagues and I recently realized while working on another very successful adoption DNA case.

Let me give you an example of just how clear-cut this really is.

This is what half-siblings look like in 23andMe's Family Inheritance feature (not Family Inheritance Advanced):

Half-siblings DNA sharing, click to enlarge

Versus full siblings:

Full siblings DNA sharing, click to enlarge

Notice the dark blue in the full siblings' comparison. That color is illustrating the areas where the siblings share "fully identical regions" versus the light blue which illustrates the "half-identical regions". Full siblings are the only relationship (except occasionally double cousins) that share fully identical regions, while half identical regions are what we find for all other atDNA matches. This is because full siblings get DNA from the same mother AND father, so on some of the chromosomes, they match on both pairs. For example, in the illustration above, the paternal Chromosome #1 and maternal Chromosome #1 have four fully identical regions, six half identical regions and one non-identical region. Remember we all get one of each chromosome 1-22 from mom and one from dad. This means that in some areas, we will inherit the same DNA as our full siblings on both pairs of chromosomes, while in some places we will inherit the same DNA on one chromosome and in some regions we will not inherit the same DNA on either chromosome. (This in-depth analysis would rarely be needed since it is usually obvious from the percentage of DNA shared if two people are full or half-siblings. The exception is when two people share an amount of DNA that falls somewhere in the middle of what would be expected, for example 37.5%.)

Although a parent a child and full siblings both share approximately 50% of their DNA, there is no confusing these two relationships when you see the pattern of DNA inheritance. Take a look at these graphs from 23andMe's Family Inheritance ADVANCED:

Parent/child DNA inheritance, sharing 50%

Full siblings DNA inheritance, sharing ~50%

As you can see, when the match is between a parent and a child, it is very obvious. This is because a parent and a child (top) will share the entire length of each chromosome 1-22, while other relationships, such as siblings (bottom), will have interrupted, randomly interspersed blocks of sharing.

Here is what the same relationships looks like using Family Tree DNA's Family Finder Chromosome Browser:

Parent/child DNA inheritance at FTDNA's Family Finder

Full sibling DNA inheritance at FTDNA's Family Finder

At AncestryDNA, all you get is this:

With this explanation:

It reads, "Our analysis of your DNA predicts that this person you match with is either your parent or your child. While there may be some statistical variation in our prediction, it is very likely to be a parent/child relationship. There is a very small possibility that the relationship may be up to two degrees of separation like a brother or a grandchild."

This explanation is very confusing to me for a couple of reasons. First, there does not need to be any level of "statistical variation" or uncertainty between parent/child versus sibling relationships. Doesn't AncestryDNA take into account the two testers' ages? Don't they look at the pattern of inheritance as illustrated above? If they had done either in the case outlined in this post, they would have easily realized that their prediction with 99% confidence was wholly inaccurate. Second, it is a bit odd to me that they discuss degree of relationship instead of expected percentage of shared DNA for immediate family relationships, which is much more relevant here. Their explanation groups brother and grandparent together, separate from parent and child, rather than explaining that parent/child/sibling relationships all share around 50% of their DNA, while grandparent/grandchild only share about 25% of DNA. Aunt/uncle/niece/nephew/half-sibling relationships also share about 25% on average. Ages of the matches will usually distinguish between these relationships, but when it doesn't, the pattern of inheritance almost always does.

This is not the only case where an adoptee has been confused with their AncestryDNA close relationship predictions this week. Another adoptee was elated to receive a first cousin prediction, but doesn't know if it is indeed a first cousin because there is no way of determining what criteria AncestryDNA used for the prediction. Search angels have been assisting the adoptee research this one too and all have strong doubts as to the accuracy of the prediction based on the match's family tree.

I realize that Ancestry.com has said that they wish to keep the interface simple for the layman, but look what this adoptee wrote to me today, "They need to change something. It is much too confusing to predict what
it actually means, especially for those of us who are doing our searches
from home with no training." It sounds like, at least for adoptees, the end result of not including the specific underlying genetics is the exact opposite of what AncestryDNA was intending to accomplish.

I am involved in and aware of a quickly increasing number of successes involving adoptees using 23andMe and Family Tree DNA to discover their roots. By most accounts, there are at least six million adoptees in the United States, many of whom wish to learn about their genetic roots. (This number does not include donor-conceived individuals.) When these adoption DNA success stories get out in a big way, AncestryDNA is going to miss out on a very large market. I really hope they rethink their offerings, so we can ALL benefit from their service.

When contacted about the confusion with Chris and Pat's match, AncestryDNA's customer service was quick to remind them that the test is still in beta. With a database of over 50,000 autosomal DNA customers and growing fast, that seems a weak excuse. If they were unsure of their algorithms (and as I have demonstrated, there should be no reason for uncertainty in predicting close relationships), then they should have limited the beta to the original first 12,000 participants until they had tested it further. When a customer sees a 99% confidence prediction, this does not imply uncertainty, even in beta. In this case, the AncestryDNA representative told Chris that he thought the prediction might be in error. He said that they believed that the match was real, but that the prediction may be too close. Strangely, Chris was told that they needed a new sample and it would take two weeks for the kit to arrive and 6-7 weeks more to receive the results after kit activation. Why would they need a new DNA sample? Can't they just rerun the comparison or, even easier yet, simply look at the DNA sharing and reach a conclusion? If AncestryDNA wants to send the matching data to me, I will guarantee to give them a very quick answer! ;-)

Just for those of you who are wondering...
We considered the possibility that Pat is also adopted or donor-conceived, but this is highly unlikely due to several factors that I will not disclose here. The only other possibility would be a switched-baby-scenario at the hospital. Obviously, the odds of this are extremely small.

Regardless of the real situation, should Chris or Pat have to wait another 9-10 weeks to find out? Even if it turns out that somehow they are, indeed, closer relatives than our research implies, all of this confusion and heartache could have been avoided with the matching DNA information provided by the other two companies offering these tests. Don't the adoptees in our communities deserve better? Haven't they been forced to jump through enough hoops in an attempt to discover the information that the rest of us possess as our birthright?

As I'm sure my readers will agree, I am always fair to the companies involved in genetic genealogy and no one is a bigger cheerleader when a company gets it right, but this situation is simply inexcusable to me. I am interested in hearing how you feel about it too, so please share your thoughts. I would like to close with the words of one of the adoptees involved in this regrettable situation (words in parenthesis were added for clarity):

It's bad enough some of us already don't know who we are and are refused
access to our own identity and medical information, but to turn around
and pay money for something we think may bring us a glimmer of hope into
the secrets of who we are, and then end up with more questions than
answers, it is frustrating.
It's almost like dangling the carrot in front of the horse, where they can see it but just can't quite reach it.

I still feel that I am closer than I was, but without a secret decoder ring I feel like I wasted $100... I really don't have any way to know if I have the right information
or how far off this test is. I have nothing concrete to compare it to
and I could be doing all this work off of information that may not even
been valid...at
first I was really excited because I thought I had found some major clue
(and I still may have, and definitely have more than I did before) and
then started realizing that this could just be a goose chase.

It's part of the search I guess, but this situation was a bit
different, I knew it was a long shot, because someone else (closely related) has to have
taken the test, but then when you immediately get a hit that seems that
close its an amazingly surreal feeling, now I am just worried it was
$100 lost that I could have used towards one of the other more expensive
test on other sites... I feel they (AncestryDNA) did something wrong in the way they set this
up.

**Update** - Immediately after reading this post, 23andMe generously offered both testers a free kit through their Personal Genome Service. When they receive the results, we will be able to determine their exact relationship (if they are indeed close family).

***Update 8/24 - AncestryDNA has stated that this was a lab error that is being rectified. Update post here.

37 comments:

As an Adoptee advocate with DNA, this has been very shocking to all of us. We've given AncestryDNA a major benefit of the doubt, but now I'm starting to question that. Without some sort of proof, it is hard to say what they are doing is valid or not. As you state, those of us who know this area with Adoptees can tell in seconds just by looking at the charts what most likely is happening. They should be able to give much more information than they are currently giving overall. AncestryDNA can learn a lot from the Adoptee community in how to make things easy for all but still give enough information to those who need it. I for one would be very happy to talk to them about our work.

I am an adoptee and my heart aches for all involved. I am devastated by AncestryDNA's excuse of "Beta testing". If I were Ken Chahine, I would immediately be on the phone with Chris, overseeing an immediate re-run of both participants' tests ASAP...AND sending him the raw data for both individuals so comparisons could be made.

I have tested at all 3 major DNA testing companies, FTDNA, 23andMe and AncestryDNA. Out of all 3 the most helpful to me has been FTDNA.

Until AncestryDNA makes raw data or some sort of chromosome browser available, adoptees would better served by spending there money elsewhere. Just my humble opinion.

Might this just be AncestryDNA's swan song? I hope not. AncestryDNA will lose a huge market of 6 million+ adoptees, NPEs, artificial inseminates and others who have no idea of their ancestry, if they decide the investment into DNA was not worth it.

How difficult would it be to add a link "More info" to let us see what our raw data really shows?

I'm even somewhat offended that AncestryDNA won't show us our raw data...many of us are not that stupid to understand how to use it.

Mr. Sullivan and Mr. Chahine...please talk to Rob Warthen and Cece. I have worked with both of them closely. They can tell you what is needed to make your product truly outstanding in the field of DNA testing.

I believe the reason that ancestryDNA does not give you the raw data is greed, plain and simple.

Please tell me if the following is not true.If you cancel your subscription to Ancestry.com or Ancestry Connections, you no longer get DNA matches, access to the family trees or email addresses of your matches.

They don't want you to take your data to gedmatch.com.

What ancestryDNA wants is $34.95 each and every month forever to see your matches.

This is far from cost-effective when compared to FTDNA or 23andMe. A one-time fee of around $300 for an autosomal test is all that it costs and you are all set.

From what I can gather you have access to your matches but without a subscription you won't be able to access the trees of your matches. All the tree on Ancestry are restricted to members only. This effectively means that people will be tied into an Ancestry subscription to get the genealogical information they need to determine whether or not the match is worth pursuing. The blogger Genealogue was granted six months' free access to "Ancestry Connections" because he couldn't view the trees of his matches:

Leaving the adoptee issue completely aside, AncestryDNA is paid to sequence the customer's DNA. The data belongs to the customer, not to AncestryDNA. This is the major reason I have not tested with AncestryDNA and am not recommending them to others.

I totally agree with you Debbie. I will not use their testing and am horribly upset about having to pay for an Ancestry subscription and now they refer you to other paid for view companies to see data they claim to have in their database! I worry that those who are very new to genetic genealogy won't understand the issues and problems. What a shame!

I find it a little bit ironic that this story is published on the day I received my invitation from AncestryDNA. I was actually getting excited about testing my wife, who has significant Native American ancestry, to see what Ancestry had to say about her heritage. I think I'll still go through with the test, but my enthusiasm has dropped significantly. I have to say the way Ancestry handled this is completely inappropriate. DNA testing has really helped me learn a lot about my heritage in both good and, well, unexpected ways. But to have something like this happen would be hearbreaking. I really hope they make this right with Chris and Pat.

Knowing your situation and enthusiasm for genetic genealogy, I think you should still go through with the test too. Just remember, if you get unexpected results (again), you may have to retest her at 23andMe or FTDNA to find out if they were accurate.

Interesting, given what many of us know about close relationship comparisons we have made with both 23andMe and FF, as well as relative published research on the subject, and basic logic, the reported results make no sense.

I would think that LAB ERROR sounds like the most reasonable explanation for the the results and request for a new sample. If they don't test for FIBD, but just HIBD like FTDNA, then a duplicate test of the same persons DNA could also come up with a parent/child prediction. No idea what kind of controls they have in their lab, but potential reason for concern.

If Ancestry was serious about genetic genealogy, they'd also fix their Y-DNA and mtDNA testing. However, they've quit advertising them and made existing results harder to find. Not a very strong commitment in my mind. If autosomal DNA testing doesn't make them money in a year, I bet they abandon it completely.

I have also tested with all three companies. I have a predicted 4th cousin match on FTDNA Family Finder, sharing 38.03 total cM and a longest single shared block of 18.99 cM. On Ancestry, he is reported as a 5th-8th cousin and a "low confidence" match. I also have a predicted 5th cousin match on 23andMe Relative Finder who is a reported 5th-8th "low confidence" match on Ancestry.

I was under the impression that the three companies use the same chip, and the fact that Ancestry has picked up matches that I also have on the other two companies is encouraging, but in order to compare apples to apples, it looks like we are not quite there yet as far as Ancestry is concerned.

If a lab error or transcription error occurred concerning the parent/child prediction, it is very unfortunate, and Ancestry's QA/QC program will need major revising. I feel really sorry for the persons who have had their lives turned into emotional turmoil, if indeed the predicted results are in error.

It is wonderful that 23andMe offered to test. As search angels we tell adoptees and birth family searching that they should do the autosomal DNA test, and Y-DNA if male. I want to continue feeling confident that I am giving the correct advice so hopefully this Ancestry match issue gets resolved very quickly as I normally recommend that folks test at all three companies if possible (despite not being able to work with, or upload your Ancestry DNA results).

Ancestry's specialty is genealogy, and for that it's superb. Ancestry knows that evidence is essential to any family tree and that its massive collection of documents (and, therefore, documented family trees) is the main reason people subscribe.

The ability to connect your DNA to pedigrees, many of them fully documented, is what sets Ancestry apart.

Since Ancestry is the king of documentation, it is shocking that it would suggest relationships to its customers and refuse to show the documentation. "We predict that these two people are second cousins, and we have evidence, but we're not going to show it to you."

When they correct this MAJOR flaw in their DNA results, they can blow the competition out of the water.

I am glad to hear that 23andme is giving such a service to these individuals. I have read the comments for several months about the pros and cons of each company on the DNA newby blog. I have made up my mind what company I will use now. 23andme gets my vote..and my money! In this economic time we all have to weigh our financial decisions with much thought. And as much as I am eager (to put it mildly) to find out about my family history, it is still not easy to spend such an amount to satisfy my emotional and intellectual quest for knowledge. So....thanks 23and me and I wish the best for the parties involved. Thanks to everyone who has so graciously provided your time and expertise to the cause.

Ancestry is once again jumping into a new arena without consulting the stakeholders and experts in the field, nor asking the consumers what they actually want. Now, while they are still technically in beta, is the time to slow down, listen, and respond.

CeCe and allThank you for taking the time to share this...I did the ancestry.com and I am sorry I did now but it is another lesson in look before you leap. It is hard not to jump when you adopted and want to find family and medical history. It is good to know there are people like CeCe and other search angles take the time to help usThanks Bob

AncestryDNA, and the laboratories we work with, take the quality and accuracy of our DNA test very seriously. Through our quality control procedures, we recently discovered that a small number of customers had a problem with their DNA results due to a laboratory error. In the rare case where there is an error, we work directly with our members to correct the results, which in some cases requires a new DNA sample. We have contacted all the individuals affected by this error and are in the process of correcting it. We sincerely apologize for any inconvenience and confusion that can be a result of an error and are working hard to make this right for our members in a timely manner. We appreciate everyone’s patience as we continue to fine-tune this exciting new product.

Ancestry.....can you correct the other issues, also? See these blogs for more problems with your product: Ancestry’s Consent Form for Ancestry DNA Autosomal Test, posted 16 Aug 2012http://dna-explained.com/

Why is it that AncestryDNA is the only testing company testing autosomal DNA which does not release the raw data to its customers. I had considered testing through AncestryDNA until I realized that they only release their predictions. That is absolutely ludicrous. I would rather invest my money with a company who gives me the tools to verify my own results, then I would better be able to catch any errors. That happened with my results at one time with 23andMe. Because I was able to catch it the issue was resolved very quickly. If AncestryDNA wants to compete in the autosomal market, then they need to give customers value for their investment. I would far rather pay more to test with a company who gives me the tools I need to verify relationships. Is it that Ancestry doesn't trust me with my own information, but are willing to use that information in research studies?? AncestryDNA has a lot to learn in this particular market.

Laboratory errors can and do happen to any company. FTDNA and 23andMe customers can actually "crowd-source" problems by pooling their experiences, which may involve sharing DNA data with a trusted third party. If AncestryDNA had allowed raw data downloads,this would have simplified matters considerably.

I recently received my 3rd atDNA testing kit from Ancestry and was surprised that it contained the saliva test vs the cheek 3-swab method. I called in to ask them about it, and was told that they are experiencing issues running the atDNA and the cheek swabs, so have decided to only do saliva testing from here on out (but that mtDNA and yDNA will still remain as cheek swabs) as it is more accurate.

It does make me wonder now if MY testings are accurate. I have 4 96-99% confidence matches, but cannot figure out how I am related. 2 of the matches are fairly well tree'd, but the other 2 are not, and in fact, one is administered by a woman who is not even biologically connected to the subject, yet has the sample tied to HER lineage and when I tried to find out more information regarding the paternal side of subject, she stopped communicating with me. Oh well!

CeCe, I am quite disturbed by the ongoing lack of ethics at Ancestry, not only in the DNA department, but in all aspects of its operations. I have been fighting them for over fifteen years on various levels and continue to call them "Engulf and Devour"....

Reading about this mix up at Ancestry.com really makes me wonder about the test I purchased for my Wife before it was available to the public back in June 2012. She does not know who her father is and she is clearly a different ethnicity then her mother and other half-siblings. I purchased the test for her as a last resort to not only find out her ethnicity, but to hopefully find paternal family members. I have to report that she has not had one match, close or distant. In addition her paternal heritage falls into Middle Eastern and Persian/Turkish which is severely under represented on Ancesty.com. We have been so disappointed that after so long we have found absolutely nothing, not even a small possibility. I found this article while searching for articles that would tell me if anyone is having any success and I just haven’t found any good reports. I called Ancesty.com a while ago and I asked the Customer Service Representative if it was normal to have 3 3rd-4th cousin matches with a 96% confidence rate and yet some do not even share any ethnicities. All the Customer Service Rep said was “Yes, It’s normal.” Well if they don’t share any ethnicities, then how are they 3rd-4th cousins with a 96% rating? Reading about this mix-up really makes me question if they messed up her test in some way. I have been losing faith in the AncestryDNA test and questioning whether it was a waste of money and hope, after reading about this mix up it just diminished my faith in the test all together. We were going to have her mother take the test as well to verify which ethnicity percentages come from her mother and thereby would leave those ethnicities and percentages which come from her unknown father, but I think we are going to save that money and apply it to a test with 23andme or FamilyTree. I know my wife is not an adoptee, but she doesn’t one of her parents and she is searching for the same thing. I know that if she received a relationship prediction of parent/child and it was inaccurate, she would be devastated. Although having false 3rd to 4th cousin predictions with a 96% confidence is terrible as well, as it would be at least conceivable to figure out a common link with an ACCURATE 3rd-4th Cousin prediction or at least one that shares any one of her ethnicities.

AncestryDNA matched my daughter and I as immediate family which means I am a grandparent or grandchild. They matched my daughter to her father as parent and child. I am really disappointed with this and they refuse to fix it by saying that it is within range. How can I trust their other matches when they cannot match a mother and daughter? This does not make any sense to me, what happen to 50%/50% autosomal DNA inherited from each parent to child? I was not even included in the range of a parent and child?

Oh boy. I am on ancestrydna and have been happy with my results for purely research purposes for my tree. I was recently contacted by an 81 year old woman who was adopted at 2 days old -- near where our family is from. She shows as close family match to me and she has dna matches from my grandpa's side of the family and my grandma's side of the family. We have seen family photos and the resemblances are uncanny. I do not want to hear that when the results come back (of her probable sisters) that there may be some confusion. They are older and already confused by all this dna stuff. I was hoping to read we would see a clear-cut SIBLINGS answer to this to put it to rest for them. OMG. The adopted woman was not really thinking she would find family, she thought she would find out if she was Italian or irish or what so this is an amazing thrill and shock for lots of people. SAD if we don't get an answer.... I can't imagine how they will feel not knowing.